Outcomes of Infants and Young Children With Relapsed Medulloblastoma After Initial Craniospinal Irradiation-Sparing Approaches: An International Cohort Study.

Purpose: Infant and young childhood medulloblastoma (iMB) is usually treated without craniospinal irradiation (CSI) to avoid neurocognitive late effects. Unfortunately, many children relapse. The purpose of this study was to assess salvage strategies and prognostic features of patients with iMB who relapse after CSI-sparing therapy.

Caring for a child with retinoblastoma: Experience of Ethiopian parents.

Objective: This study explored the lived experience of parents of children with retinoblastoma.

Design And Method: A phenomenological qualitative study design was used, and a purposive sampling technique to recruit parents of children with retinoblastoma. Semi-structured interviews were conducted to document the lived experience of participants, who were asked to narrate their experiences caring for a child with retinoblastoma, thinking back to the day they learned about their child's condition, as well as their thoughts about the future.

Clinical Characterization of Juvenile Fibromyalgia in a Multicenter Cohort of Adolescents Enrolled in a Randomized Clinical Trial.

Objective: Juvenile fibromyalgia (JFM) is a complex chronic pain condition that remains poorly understood. The study aimed to expand the clinical characterization of JFM in a large representative sample of adolescents with JFM and identify psychological factors that predict pain interference.

Methods: Participants were 203 adolescents (ages 12-17 years) who completed baseline assessments for the multisite Fibromyalgia Integrative Training for Teens (FIT Teens) randomized control trial.

Improving guideline-concordant thromboprophylaxis prescribing for children admitted to hospital with COVID-19.

Background: The incidence of venous thrombo-embolism (VTE) in hospitalized children has increased by 130%-200% over the last two decades. Given this increase, many centers utilize electronic clinical decision support (CDS) to prognosticate VTE risk and recommend prophylaxis. SARS-CoV-2 infection (COVID-19) is a risk factor for VTE; however, CDS developed before the COVID-19 pandemic may not accurately prognosticate VTE risk in children with COVID-19.

Fecal Iron Measurement in Studies of the Human Intestinal Microbiome.

Iron is an essential micronutrient for humans and their intestinal microbiota. Host intestinal cells and iron-dependent bacteria compete for intraluminal iron, so the composition and functions of the gut microbiota may influence iron availability. Studies of the effects of the microbiota or probiotic interventions on host iron absorption may be particularly relevant to settings with high burdens of iron deficiency and gastrointestinal infections, since inflammation reduces iron bioavailability and unabsorbed intraluminal iron may modify the composition of the microbiota.

Incidence and clinical factors associated with ulceration in infantile hemangiomas.

Background: Ulceration is an important complication in infantile hemangiomas (IHs). Prior to the use of β-blockers, the estimated incidence of this complication in a referral population was between 15% and 30%. The incidence and factors associated with ulceration have not been systematically studied since the emergence of β-blocker therapy.

An allergist's approach to food poisoning.

Foodborne illnesses represent a significant global health concern. These preventable diseases lead to substantial mortality and morbidity worldwide. Substantial overlap with food allergy exists with similar clinical presentations and symptom onset.

Canadian Rheumatology Association Recommendations for the Screening, Monitoring, and Treatment of Juvenile Idiopathic Arthritis-Associated Uveitis.

Objective: To develop Canadian recommendations for the screening, monitoring, and treatment of uveitis associated with juvenile idiopathic arthritis (JIA).

Methods: Recommendations were developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE)-ADOLOPMENT approach. A working group of 14 pediatric rheumatologists, 6 ophthalmologists, 2 methodologists, and 3 caregiver/patient representatives reviewed recent American College of Rheumatology (ACR)/Arthritis Foundation (AF) recommendations and worked in pairs to develop evidence-to-decision (EtD) tables.

Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis.

Hereditary hemolytic anemias are a heterogenous group of disorders that include membranopathies, enzymopathies, and hemoglobinopathies. Genetic testing is helpful in the diagnostic workup when the clinical and laboratory workup is not conclusive. Here, we present a case of a 21-month-old female who was initially diagnosed with hereditary spherocytosis based on the presence of a variant of unknown significance in the SPTB gene.

Maralixibat Treatment Response in Alagille Syndrome is Associated with Improved Health-Related Quality of Life.

Objective: The objective of this study was to assess the impact of treatment response to the ileal bile acid transporter inhibitor maralixibat on health-related quality of life (HRQoL) in children with Alagille syndrome.

Study Design: This analysis used data from the ICONIC trial, a phase 2 study with a 4-week double-blind, placebo-controlled, randomized drug withdrawal period in children with Alagille syndrome with moderate-to-severe pruritus. Clinically meaningful treatment response to maralixibat was defined a priori as a ≥1-point reduction in the Itch-Reported Outcome (Observer) score, from baseline to week 48.

Assessing Responsiveness of the Trapeziometacarpal Arthrosis Symptoms and Disability Questionnaire.

Background: This study aimed to assess the responsiveness of the Trapeziometacarpal Arthrosis Symptoms and Disability (TASD) questionnaire after corticosteroid injections and operative management for trapeziometacarpal osteoarthritis (TMC-OA).

Methods: This longitudinal cohort study included patients with TMC-OA who underwent treatment (corticosteroid injection or surgery). Measurements occurred at baseline and follow-up time points: 6 weeks, 3 months, 6 months, and 1 year.

Pearls & Oy-sters: Genetic Epilepsy: An Important Cause of Neonatal Seizures in Infants With Complex Congenital Heart Disease.

Genetic epilepsies, such as gene variants, although uncommon, are potential causes of neonatal seizures in infants with complex congenital heart disease (CHD). -related seizures commonly present as tonic posturing with autonomic changes and a distinctive amplitude-integrated EEG (aEEG) pattern with increase in amplitude, immediately followed by background suppression. Seizures are typically refractory to commonly used antiepileptics in this age group and respond best to sodium channel blockers such as carbamazepine and fosphenytoin.

Recurrent UPJ obstruction following paediatric pyeloplasty is associated with an initial <2.5cm incision open surgical approach.

Objectives: To determine the risk factors that affect surgical outcomes for pediatric pyeloplasty, and whether this may be related to the choice of operative approach.

Methods: A retrospective cohort study was performed to evaluate clinicodemographic and operative characteristics of children undergoing dismemberment pyeloplasty by 2 senior pediatric urologists in our tertiary institution between Jan 2008 - Dec 2017. Outcomes included overall complications, re-stenosis, and revision pyeloplasty based on clinic-radiological parameters.

Classification of Children and Adolescents With Avoidant/Restrictive Food Intake Disorder.

Background And Objectives: Evidence suggests that children and adolescents with avoidant/restrictive food intake disorder (ARFID) have heterogeneous clinical presentations. To use latent class analysis (LCA) and determine the frequency of various classes in pediatric patients with ARFID drawn from a 2-year surveillance study.

Methods: Cases were ascertained using the Canadian Pediatric Surveillance Program methodology from January 1, 2016, to December 31, 2017.

Behaviour, Belief and Impairment (BBI): a diagnostic procedure for eating disorders in primary care.

Background: Eating disorders are becoming increasingly prevalent, especially among adolescents. Recognition and assessment of their clinical presentation can be challenging for clinicians in primary care settings, where consultation time is short and experience with eating disorders is limited. The early detection and appropriate referral of adolescents with eating disorders are essential for timely management.

Novel Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.

Certain combinations of common variants in exon 3 of and , the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been associated with dyschromatopsia and cone dysfunction syndromes. Here we report the identification of a novel exon 3 haplotype, G-C-G-A-T-T-G-G (referring to nucleotide variants at cDNA positions c.453, c.

Growth delay: an alternative measure of population health based on child height distributions.

Background: Indicators of child height, such as mean height-for-age -scores (HAZ), height-for-age difference (HAD) and stunting prevalence, do not account for differences in population-average bone developmental stage.

Aim: Propose a measure of child height that conveys the dependency of linear growth on stage rather than chronological age.

Subjects And Methods: Using Demographic and Health Surveys (2000-2018; 64 countries), we generated: (1) predicted HAZ at specific ages (HAZ regressed on age); (2) height-age (age at which mean height matches the WHO Growth Standards median); (3) Growth delay (GD), the difference between chronological age and height-age; (4) HAD; and (5) stunting prevalence.

Functional divergence of the two Elongator subcomplexes during neurodevelopment.

The highly conserved Elongator complex is a translational regulator that plays a critical role in neurodevelopment, neurological diseases, and brain tumors. Numerous clinically relevant variants have been reported in the catalytic Elp123 subcomplex, while no missense mutations in the accessory subcomplex Elp456 have been described. Here, we identify ELP4 and ELP6 variants in patients with developmental delay, epilepsy, intellectual disability, and motor dysfunction.

Assessment of Social Behavior Using a Passive Monitoring App in Cognitively Normal and Cognitively Impaired Older Adults: Observational Study.

Background: In people with cognitive impairment, loss of social interactions has a major impact on well-being. Therefore, patients would benefit from early detection of symptoms of social withdrawal. Current measurement techniques such as questionnaires are subjective and rely on recall, in contradiction to smartphone apps, which measure social behavior passively and objectively.

A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype.

Maternal uniparental disomy of human chromosome 7 [upd(7)mat] is well-characterized as a cause of the growth disorder Silver-Russell syndrome (SRS). However, the causative gene is not currently known. There is growing evidence that molecular changes at the imprinted MEST region in 7q32.

Pediatric Emergency Department Sepsis Screening Tool Accuracy During the COVID-19 Pandemic.

Background: Automated sepsis alerts in pediatric emergency departments (EDs) can identify patients at risk for sepsis, allowing for earlier intervention with appropriate therapies. The impact of the COVID-19 pandemic on the performance of pediatric sepsis alerts is unknown.

Methods: We performed a retrospective cohort study of 59 335 ED visits before the pandemic and 51 990 ED visits during the pandemic in an ED with an automated sepsis alert based on systemic inflammatory response syndrome criteria.